Canonical Allele Identifier: CA2612827250

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20617671-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20617673del , CM000673.2:g.20617673del	GRCh38
NC_000011.9:g.20639219del , CM000673.1:g.20639219del	GRCh37
NC_000011.8:g.20595795del	NCBI36
NG_013086.1:g.23274del
NG_013086.2:g.23274del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525748.6:c.1128-79del MANE Select	ENSP00000434364.2:n.1128-79del
ENST00000298923.11:c.*425-79del	ENSP00000298923.7:n.*425-79del
ENST00000525748.5:c.1128-79del	ENSP00000434364.1:n.1128-79del
NM_004211.3:c.1128-79del	NP_004202.2:n.1128-79del
XM_005253225.1:c.426-79del	XP_005253282.1:n.426-79del
XM_011520473.1:c.1128-79del	XP_011518775.1:n.1128-79del
NM_001318369.1:c.426-79del	NP_001305298.1:n.426-79del
NM_004211.4:c.1128-79del	NP_004202.3:n.1128-79del
XM_017018544.2:c.252-79del	XP_016874033.1:n.252-79del
XM_017018545.2:c.87-79del	XP_016874034.1:n.87-79del
NM_001318369.2:c.426-79del	NP_001305298.1:n.426-79del
NM_004211.5:c.1128-79del MANE Select	NP_004202.4:n.1128-79del